Zfx mutation results in small animal size and reduced germ cell number in male and female mice

Development

Volumn 124, Issue 11, 1997, Pages 2275-2284

  Luoh, Shiuh Wen ^a,b,c   Bain, Paul A ^a,b   Polakiewicz, Roberto D ^a,b,d   Goodheart, Mary L ^a,b   Gardner, Humphrey ^b   Jaenisch, Rudolf ^b   Page, David C ^a,b  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH   (United States)

^c UCLA MEDICAL CENTER   (United States)

^d NEW ENGLAND BIOLABS   (United States)

Author keywords

Embryonic growth; Germ cells; Ovarian failure; Sex determination; ZFX; Zinc finger protein

Indexed keywords

MUTANT PROTEIN; ZINC FINGER PROTEIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; BODY SIZE; CONTROLLED STUDY; EMBRYO DEVELOPMENT; FEMALE; FEMALE FERTILITY; GERM CELL; MALE; MALE FERTILITY; MOUSE; MOUSE MUTANT; NONHUMAN; OOCYTE; OVARY; PRIMORDIAL GERM CELL; PRIORITY JOURNAL; SEXUAL DEVELOPMENT; SPERMATOZOON COUNT; TESTIS; TURNER SYNDROME;

ANIMALS; BODY WEIGHT; CELL COUNT; DISEASE MODELS, ANIMAL; DNA-BINDING PROTEINS; FEMALE; FETAL DEATH; GENITALIA, FEMALE; GENITALIA, MALE; GERM CELLS; HUMANS; INFERTILITY, FEMALE; MALE; MICE; MICE, KNOCKOUT; MUTATION; OLIGOSPERMIA; OOCYTES; OVARIAN FAILURE, PREMATURE; OVARY; SEX DIFFERENTIATION; TRANSCRIPTION FACTORS;

ANIMALIA; MAMMALIA;

EID: 0030806302     PISSN: 09501991     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (53)

1. Abercrombie, M. (1946). Estimation of nuclear population from microtome sections. Anat. Rec. 94, 239-247.
2. Araki, E., Lipes, M. A., Patti, M. E., Bruning, J. C., Haag, B., Johnson, R. S. and Kahn, C. R. (1994). Alternative pathway of insulin signalling in mice with targeted disruption of the IRS-1 gene. Nature 372, 186-190.
3. Ashworth, A., Rastan, S., Lovell-Badge, R. and Kay, G. (1991). X-chromosome inactivation may explain the difference in viability of XO humans and mice. Nature 351, 406-408.
4. Ashworth, A., Skene, B., Swift, S. and Lovell-Badge, R. (1990). Zfa is an expressed retroposon derived from an alternative transcript of the Zfx gene. EMBO J. 9, 1529-1534.
5. Ashworth, A., Swift, S. and Affara, N. (1989). Sequence of cDNA for murine Zfy-1, a candidate for Tdy. Nucl. Acids Res. 17, 2864.
6. Baker, J., Liu, J.-P., Robertson, E. J. and Efstratiadis, A. (1993). Role of insulin-like growth factors in embryonic and postnatal development. Cell 75, 73-82.
7. Buehr, M. and McLaren, A. (1993). Isolation and culture of primordial germ cells. Method. Enzymol. 225, 58-77.
8. Burgoyne, P. S. (1989). Thumbs down for the zinc finger? Nature 342, 860-862.
9. Burgoyne, P. S. and Baker, T. G. (1985). Perinatal oocyte loss in XO mice and its implications for the aetiology of gonadal dysgenesis in XO women. J. Reprod. Fert. 75, 633-645.
10. Camper, S. A., Saunders, T. L., Katz, R. W. and Reeves, R. H. 1990). The Pit-1 transcription factor gene is a candidate for the murine Snell dwarf mutation. Genomics 8, 586-590.
11. DeChiara, T., Efstratiadis, A. and Robertson, E. J. (1990). A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting. Nature.345, 78-80.
12. Field, S., Johnson, R. S., Mortensen, R. M., Papaioannou, V. E., Spiegelman, B. M. and Greenberg, M. E. (1992). Growth and differentiation of embryonic stem cells that lack an intact c-fos gene. Proc. Natl. Acad. Sci. USA 89, 9306-9310.
13. Godfrey, P., Rahal, J. O., Beamer, W. G., Copeland, N. G., Jenkins, N. A. and Mayo, K. E. (1993). GHRH receptor of little mice contains a missense mutation in th extracellular domain that disrupts receptor function. Nature Gen. 4, 227-232.
14. Hilberg, F. and Wagner, E. F. (1992). Embryonic stem (ES) cells lacking functional c-jun: consequences for growth and differentiation, AP-1 activity and tumorigenicity. Oncogene 7, 2371-2380.
15. Hogan, B., Beddington, R., Costantini, F. and Lacy, E. (1994).Manipulating the Mouse Embryo, A Laboratory Manual. Plainview, NY: Cold Spring Habor Laboratory Press.
16. Johnson, R. S., Spiegelman, B. M. and Papaioannou, V. (1992). Pleiotropic effects of a null mutation in the c-fos proto-oncogene. Cell 71, 577-586.
17. Johnson, R. S., van Lingen, B., Papaioannou, V. and Spiegelman, B. M. (1993). A null mutation at the c-jun locus causes embryonic lethality and retarded growth in culture. Genes Dev. 7, 1309-1317.
18. Jones, E. C. and Krohn, P. L. (1961). The relationships between age, numbers of oocytes and fertility in virgin and multiparous mice. J. Endocrinol. 21, 469-495.
19. Kaufman, M. H. (1992).The Atlas of Mouse Development. London: Academic Press, Ltd.
20. Koopman, P., Ashworth, A. and Lovell-Badge, R. (1991). The ZFY gene family in humans and mice. Trends Genet. 7, 132-136.
21. Koopman, P., Gubbay, J., Collignon, J. and Lovell-Badge, R. (1989). Zfy gene expression patterns are not compatible with a primary role in mouse sex determination. Nature 342, 940-942.
22. Krauss, C. M., Turksoy, R. N., Atkins, L., McLaughlin, C., Brown, L. G. and Page, D. C. (1987). Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. N Eng. J. Med. 317, 125-131.
23. Laird, P. W., Ziderveld, A., K., L., Rudnicki, M. A., Jaenisch, R. and Berns, A. (1991). Simplified mammalian DNA isolation procedure. Nucl. Acids Res. 19, 4293.
24. Lamar, E. E. and Palmer, E. (1984). Y-encoded, species-specific DNA in mice: evidence that the Y chromosome exists in two polymorphic forms in inbred strains. Cell 37, 171-177.
25. Lau, Y. F. and Chan, K. M. (1989). The putative testis-determining factor and related genes are expressed as discrete-sized transcripts in adult gonadal and somatic tissues. Am. J. Med. Genet. 45, 942-952.
26. Li, E., Bestor, T. H. and Jaenisch, R. (1992). Targeted mutation of the DNA methyltransferase gene results in embryonic lethality. Cell 69, 915-926.
27. Li, S., Crenshaw, B. E., Rawson, E. J., Simmons, D. M., Swanson, L. W. and Rosenfeld, M. G. (1990). Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1. Nature 347, 528-533.
28. Lippe, B., Westra, S. J. and Boechat, M. I. (1993) Ovarian function in Turner syndrome: recognizing the spectrum. In Basic and Clinical Approach to Turner Syndrome. (ed. I. Hibi and K. Takano). pp. 117-122. Amsterdam: Elsevier.
29. Luoh, S.-W. and Page, D. C. (1994). The structure of the Zfx gene on the mouse X chromosome. Genomics 19, 310-319.
30. Luoh, S.-W., Jegalian, K., Lee, A., Chen, E. Y., Ridley, A. and Page, D. C. (1995). CpG islands in human ZFX and ZFY and mouse Zfx genes: sequence similarities and methylation differences. The structure of the Zfx gene on the mouse X chromosome. Genomics 29, 353-363.
31. Mardon, G., Luoh, S.-W., Simpson, E. M., Gill, G., Brown, L. G. and Page, D. C. (1990). Mouse Zfx protein is similar to Zfy-2: each contains an acidic activating domain and 13 zinc fingers. Molec. Cell. Biol. 10, 681-688.
32. Mardon, G., Mosher, R., Disteche, C. M., Nishioka, Y., McLaren, A. and Page, D. C. (1989a). Duplication, deletion, and polymorphism in the sex-determining region of the mouse Y chromosome. Science 243, 78-80.
33. Mardon, G. and Page, D. C. (1989b). The sex-determining region of the mouse Y chromosome encodes a protein with a highly acidic domain and 13 zinc fingers. Cell 56, 765-770.
34. McLeod, M. J. (1980). Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S. Teratology 22, 299-301.
35. Mitchell, M., Simon, D., Affara, N., Ferguson-Smith, M., Avner, P. and Bishop, C. (1989). Localization of murine X and autosomal sequences homologous to the human Y located testis-determining region. Genetics. 121, 803-809.
36. Mittwoch, U. (1992). Sex determination and sex reversal: genotype, phenotype, dogma, and semantics. Hum. Genet. 89, 467-479.
37. Nagamine, C. M., Chan, K., Hake, L. E. and Lau, Y. F. (1990). The two candidate testis-determining Y genes (Zfy-1 and Zfy-2) are differentially expressed in fetal and adult mouse tissues. Genes Dev. 4, 63-74.
38. Nagamine, C. M., Chan, K. M., Kozak, C. A. and Lau, Y. F. (1989). Chromosome mapping and expression of a putative testis-determining gene in mouse. Science 243, 80-83.
39. Ogata, T., Tyler-Smith, C., Purvis-Smith, S. and Turner, G. (1993). Chromosomal localisation of a gene(s) for Turner stigmata on Yp. J. Med. Genet. 30, 918-922.
40. Page, D. C., Disteche, C. M., Simpson, E. M., de la Chapelle, A., Andersson, M., Alitalo, T., Brown, L. G., Green, P. and Akots, G. (1990). Chromosomal localization of ZFX - a human gene that escapes X inactivation - and its murine homologs. Genomics 7, 37-46.
41. Page, D. C., Mosher, R., Simpson, E. M., Fisher, E. M., Mardon, G., Pollack, J., McGillivray, B., de la Chapelle, A. and Brown, L. G. (1987). The sex-determining region of the human Y chromosome encodes a finger protein. Cell 51, 1091-1104.
42. Palmer, M. S., Berta, P., Sinclair, A. H., Pym, B. and Goodfellow, P. N. (1990). Comparison of human ZFY and ZFX transcripts. Proc. Natl. Acad. Sci. USA 87, 1681-1685.
43. Palmer, M. S., Sinclair, A. H., Berta, P., Ellis, N. A., Goodfellow, P. N., Abbas, N. E. and Fellous, M. (1989). Genetic evidence that ZFY is not the testis-determining factor. Nature 342, 937-939.
44. Pedersen, T. and Peters, H. (1968). Proposal for a classification of oocytes and follicles in the mouse ovary. J. Reprod. Fertil. 17, 555-557.
45. Powell-Braxton, L., Hollingshead, P., Warburton, C., Dowd, M., Pitts-Meek, S., Dalton, D., Gillett, N. and Stewart, T. A. (1993). IGF-I is required for normal embryonic growth in mice. Genes Dev. 7, 2609-2617.
46. Reijo, R., Lee, T. Y., Salo, P., Alagappan, R., Brown, L. G., Rosenberg, M., Rozen, S., Jaffe, T., Strauss, D., Hovatta, O., Chapelle, A. d. I., Silber, S. and Page, D. C. (1995). Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nature Genet. 10, 383-393.
47. Schneider-Gädicke, A., Beer-Romero, P., Brown, L. G., Mardon, G., Luoh, S.-W. and Page, D. C. (1989a). Putative transcription activator with alternative isoforms encoded by human ZFX gene. Nature 342, 708-711.
48. Schneider-Gädicke, A., Beer-Romero, P., Brown, L. G., Nussbaum, R. and Page, D. C. (1989b). ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation. Cell 57, 1247-1258.
49. Tam, P. P. L. and Snow, M. H. L. (1981). Proliferation and migration of primordial germ cells during compensatory growth in mouse embryos. J. Embryol. Exp. Morph. 64, 133-147.
50. Tamemoto, H., Kadowaki, T., Tobe, K., Yagi, T., Sakura, H., Hayakawa, T., Terauchi, Y., Ueki, K., Kaburagi, Y., Satoh, S., Sekihara, H., Horikoshi, H., Furuta, Y., Yoshioka, S., Ikawa, Y., Kasuga, M., Yazaki, Y. and Aizawa, S. (1994). Insulin resistance and growth retardation in mice lacking insulin receptor substrate-1. Nature 372, 182-186.
51. Taylor-Harris, P., Swift, S. and Ashworth, A. (1995). Zfy1 encodes a nuclear sequence-specific DNA binding protein. FEBS Lett. 360, 315-319.
52. Tharapel, A. T., Anderson, K. P., Simpson, J. L., Martens, P. R., Wilroy, R. S., Jr., Llerena, J. C., Jr. and Schwartz, C. E. (1993). Deletion (X)(q26.1-q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions. Am. J. Hum. Genet. 52, 463-471.
53. Zambrowicz, B. P., Zimmermann, J. W., Harendza, C. J., Simpson, E. M., Page, D. C., Brinster, R. L. and Palmiter, R. D. (1994). Expression of a mouse Zfy-1/lacZ transgene in the somatic cells of the embryonic gonad and germ cells of the adult testis. Development. 120, 1549-1559.